ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929210C>T , CM000663.2:g.42929210C>T | GRCh38 |
| NC_000001.10:g.43394881C>T , CM000663.1:g.43394881C>T | GRCh37 |
| NC_000001.9:g.43167468C>T | NCBI36 |
| NG_008232.1:g.34967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.972G>A MANE Select | ENSP00000416293.2:p.Ser324= | |
| ENST00000674545.1:n.290G>A | ||
| ENST00000674765.1:c.972G>A | ENSP00000501811.1:p.Ser324= | |
| ENST00000675112.1:n.1273G>A | ||
| ENST00000676254.1:n.1421G>A | ||
| ENST00000426263.7:c.972G>A | ENSP00000416293.2:p.Ser324= | |
| ENST00000439722.2:c.851G>A | ENSP00000395521.2:n.851G>A | |
| ENST00000475162.3:c.415+1416G>A | ||
| ENST00000630287.2:c.*287G>A | ENSP00000486694.1:n.*287G>A | |
| NM_006516.2:c.972G>A | NP_006507.2:p.Ser324= | |
| NM_006516.3:c.972G>A | NP_006507.2:p.Ser324= | |
| NM_006516.4:c.972G>A MANE Select | NP_006507.2:p.Ser324= |